Variant report

Variant	rs73791454
Chromosome Location	chr5:112105409-112105410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112103979..112106564-chr5:112195241..112197726,2	K562	blood:

Variant related genes	Relation type
ENSG00000153037	Chromatin interaction
ENSG00000272869	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1109248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56875042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58529934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59028501	1.00[AMR][1000 genomes]
rs59063648	1.00[AMR][1000 genomes]
rs73789225	1.00[AMR][1000 genomes]
rs73789235	1.00[AMR][1000 genomes]
rs73789237	1.00[AMR][1000 genomes]
rs73789238	1.00[AMR][1000 genomes]
rs73791446	0.85[AFR][1000 genomes]
rs73791450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
6	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:112087600-112117600	Weak transcription	Gastric	stomach
8	chr5:112089800-112116600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:112093400-112108600	Weak transcription	Brain Angular Gyrus	brain
10	chr5:112093400-112114800	Weak transcription	Brain Substantia Nigra	brain
11	chr5:112093400-112114800	Weak transcription	NHEK	skin
12	chr5:112093400-112116000	Weak transcription	HUVEC	blood vessel
13	chr5:112093400-112117400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:112093400-112128600	Weak transcription	Ovary	ovary
15	chr5:112093400-112128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:112094200-112128600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:112094200-112128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:112095200-112122400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:112095600-112116800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:112096200-112116000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:112096200-112117600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:112096400-112106200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:112096400-112106600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:112096400-112109200	Weak transcription	GM12878-XiMat	blood
26	chr5:112096400-112115400	Weak transcription	K562	blood
27	chr5:112097000-112116600	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:112097800-112127000	Weak transcription	Esophagus	oesophagus
29	chr5:112098000-112128600	Weak transcription	HepG2	liver
30	chr5:112098200-112106800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:112098200-112107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:112098200-112114600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:112098200-112114600	Weak transcription	HMEC	breast
34	chr5:112098200-112128600	Weak transcription	Aorta	Aorta
35	chr5:112098200-112129800	Weak transcription	Spleen	Spleen
36	chr5:112098400-112106800	Weak transcription	NHLF	lung
37	chr5:112098400-112130000	Weak transcription	Fetal Heart	heart
38	chr5:112098600-112106400	Weak transcription	NHDF-Ad	bronchial
39	chr5:112098600-112106800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:112098600-112113600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:112098600-112116400	Weak transcription	Placenta	Placenta
42	chr5:112098600-112131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:112098800-112113600	Weak transcription	HSMMtube	muscle
44	chr5:112098800-112122400	Weak transcription	A549	lung
45	chr5:112099200-112107200	Weak transcription	Fetal Brain Male	brain
46	chr5:112099200-112114000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:112099400-112107400	Strong transcription	HSMM	muscle
48	chr5:112099600-112108000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr5:112099600-112122200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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